{
    "disease_id": "DOID:0060413",
    "recommended_name": {
        "id": "DOID:0060413",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060413",
        "name": "chromosome 22q11.2 deletion syndrome, distal",
        "description": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome."
    },
    "synonyms": [
        {
            "id": "DOID:0060413",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060413",
            "name": "distal 22q11.2 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060413",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060413",
            "name": "DiGeorge syndrome and Velocardiofacial syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012740",
            "name": "chromosome 22q11.2 deletion syndrome, distal",
            "description": "Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumors."
        },
        {
            "id": "MONDO:0012740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012740",
            "name": "chromosome 22q11.2 deletion syndrome, distal",
            "description": ""
        },
        {
            "id": "MONDO:0012740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012740",
            "name": "distal 22q11.2 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012740",
            "name": "distal del(22)(q11.2)",
            "description": ""
        },
        {
            "id": "MONDO:0012740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012740",
            "name": "distal monosomy 22q11.2",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060413"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060413",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060413",
            "categories": []
        },
        {
            "id": "MONDO:0012740",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012740",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AWF4-1",
            "uniprot_ac": "A0A8M3AWF4",
            "uniprot_id": "A0A8M3AWF4_DANRE",
            "refseq_ac": "XP_009303356",
            "glycoprotein": "no",
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
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                    "type": "recommended"
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                {
                    "name": "2.7.1.67",
                    "type": "synonym"
                },
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                    "name": "phosphatidylinositol 4-kinase alpha isoform X1",
                    "type": "synonym"
                }
            ],
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                    "name": "pi4kaa",
                    "type": "recommended"
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                {
                    "name": "pi4kaa",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                }
            ],
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                    "database": "AGR",
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                }
            ]
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            "uniprot_ac": "F1R4U0",
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                    "common_name": "Zebrafish",
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                }
            ],
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                    "name": "Tricarboxylate transport protein B, mitochondrial",
                    "type": "recommended"
                },
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                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 1b",
                    "type": "synonym"
                },
                {
                    "name": "citrate transport protein B",
                    "type": "synonym"
                },
                {
                    "name": "citrate transporter), member 1b",
                    "type": "synonym"
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                {
                    "name": "citrate transporter), member 1",
                    "type": "synonym"
                },
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                    "type": "synonym"
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                    "type": "synonym"
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                    "type": "synonym"
                },
                {
                    "name": "tricarboxylate transport protein B, mitochondrial",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
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                {
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                }
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                    "name": "Synaptosomal-associated protein 29",
                    "type": "recommended"
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                {
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                {
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                {
                    "name": "fc84f09",
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                    "name": "im:7145101",
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                }
            ],
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                {
                    "id": "0060413",
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            ]
        },
        {
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                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
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                }
            ],
            "protein_names": [
                {
                    "name": "Tricarboxylate transport protein A, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Citrate transport protein A",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 1a",
                    "type": "synonym"
                },
                {
                    "name": "cic",
                    "type": "synonym"
                },
                {
                    "name": "citrate transport protein A",
                    "type": "synonym"
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                {
                    "name": "citrate transporter), member 1a",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25, member 1",
                    "type": "synonym"
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                {
                    "name": "tricarboxylate transport protein A, mitochondrial",
                    "type": "synonym"
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            "gene_names": [
                {
                    "name": "slc25a1a",
                    "type": "recommended"
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                {
                    "name": "slc25a1a",
                    "type": "synonym"
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                {
                    "name": "slc25a1",
                    "type": "synonym"
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                {
                    "name": "zgc:63578",
                    "type": "synonym"
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                {
                    "id": "0060413",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060413"
                }
            ]
        },
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            "uniprot_ac": "Q7ZVN7",
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            "refseq_ac": "NP_998238",
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mediator of RNA polymerase II transcription subunit 15",
                    "type": "recommended"
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                {
                    "name": "Mediator complex subunit 15",
                    "type": "synonym"
                },
                {
                    "name": "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein",
                    "type": "synonym"
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                {
                    "name": "activator-recruited cofactor 105 kDa component",
                    "type": "synonym"
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                {
                    "name": "mediator of RNA polymerase II transcription subunit 15",
                    "type": "synonym"
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                    "name": "med15",
                    "type": "recommended"
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                    "name": "MED15",
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                {
                    "name": "arc105",
                    "type": "synonym"
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                {
                    "name": "fi85b10",
                    "type": "synonym"
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                {
                    "name": "med15",
                    "type": "synonym"
                },
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                    "name": "pcqap",
                    "type": "synonym"
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                {
                    "name": "wu:fd19g01",
                    "type": "synonym"
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                {
                    "name": "wu:fi19d01",
                    "type": "synonym"
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                {
                    "name": "wu:fi85b10",
                    "type": "synonym"
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                {
                    "name": "zgc:55839",
                    "type": "synonym"
                }
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                {
                    "id": "0060413",
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            ]
        },
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                    "reference_species": "Danio rerio [7955]"
                }
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                    "name": "Cell division control protein 45 homolog",
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                {
                    "name": "cdc45",
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                {
                    "name": "wu:fi05h01",
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                    "id": "0060413",
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                    "name": "Mus musculus",
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            ],
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                    "name": "Synaptosomal-associated protein 29",
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                {
                    "name": "Golgi SNARE of 32 kDa",
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                {
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                {
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                {
                    "name": "Soluble 29 kDa NSF attachment protein",
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                }
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                    "id": "0060413",
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                    "id": "0060413",
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                }
            ],
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                    "name": "Tricarboxylate transport protein, mitochondrial",
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                {
                    "name": "Citrate transport protein",
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                {
                    "name": "DiGeorge syndrome gene j",
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                {
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                {
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                {
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                {
                    "name": "tricarboxylate transport protein, mitochondrial",
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            ],
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                {
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                {
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                {
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                }
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                }
            ],
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                {
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            ]
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                {
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                {
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                {
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                {
                    "name": "thioredoxin reductase TR3",
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                {
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                {
                    "name": "Txnrd2",
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            ],
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                {
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                {
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                },
                {
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                {
                    "name": "sea[Delta24]",
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                },
                {
                    "name": "sea",
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                    "name": "Pi4KIIIalpha",
                    "type": "synonym"
                },
                {
                    "name": "Stt4",
                    "type": "synonym"
                },
                {
                    "name": "ZW-2",
                    "type": "synonym"
                },
                {
                    "name": "l(1)17-59",
                    "type": "synonym"
                },
                {
                    "name": "l(1)3Ah",
                    "type": "synonym"
                },
                {
                    "name": "l(1)VA722",
                    "type": "synonym"
                },
                {
                    "name": "l(1)zw2",
                    "type": "synonym"
                },
                {
                    "name": "stt4",
                    "type": "synonym"
                },
                {
                    "name": "zw-2",
                    "type": "synonym"
                },
                {
                    "name": "zw2",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PDM4-1",
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                {
                    "id": "0060413",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060413"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14192-1",
            "uniprot_ac": "Q14192",
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            "refseq_ac": "NP_001034581",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Four and a half LIM domains protein 2",
                    "type": "recommended"
                },
                {
                    "name": "FHL-2",
                    "type": "synonym"
                },
                {
                    "name": "LIM domain protein DRAL",
                    "type": "synonym"
                },
                {
                    "name": "SLIM-3",
                    "type": "synonym"
                },
                {
                    "name": "Skeletal muscle LIM-protein 3",
                    "type": "synonym"
                },
                {
                    "name": "aging-associated gene 11",
                    "type": "synonym"
                },
                {
                    "name": "down-regulated in rhabdomyosarcoma LIM protein",
                    "type": "synonym"
                },
                {
                    "name": "four and a half LIM domains protein 2 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle LIM-protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FHL2",
                    "type": "recommended"
                },
                {
                    "name": "AAG11",
                    "type": "synonym"
                },
                {
                    "name": "DRAL",
                    "type": "synonym"
                },
                {
                    "name": "FHL-2",
                    "type": "synonym"
                },
                {
                    "name": "FHL2",
                    "type": "synonym"
                },
                {
                    "name": "SLIM-3",
                    "type": "synonym"
                },
                {
                    "name": "SLIM3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14192-1",
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                {
                    "id": "0060413",
                    "database": "AGR",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42356-1",
            "uniprot_ac": "P42356",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
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                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 4-kinase alpha",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.67",
                    "type": "synonym"
                },
                {
                    "name": "PI4-kinase alpha",
                    "type": "synonym"
                },
                {
                    "name": "PI4K-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 4-Kinase III alpha",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-4-kinase alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4-kinase 230",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4-kinase III alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4-kinase IIII+/-",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4-kinase alpha isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4-kinase, catalytic, alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4-kinase, type III, alpha",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns-4-kinase alpha",
                    "type": "synonym"
                },
                {
                    "name": "testicular secretory protein Li 35",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "PI4KA",
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                    "name": "GIDID2",
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                {
                    "name": "PI4K-ALPHA",
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                },
                {
                    "name": "PI4KA",
                    "type": "synonym"
                },
                {
                    "name": "PIK4CA",
                    "type": "synonym"
                },
                {
                    "name": "PIK4",
                    "type": "synonym"
                },
                {
                    "name": "PMGYCHA",
                    "type": "synonym"
                },
                {
                    "name": "SPG84",
                    "type": "synonym"
                },
                {
                    "name": "pi4K230",
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                }
            ],
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                    "id": "0060413",
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            ]
        },
        {
            "uniprot_canonical_ac": "Q9NNW7-1",
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                {
                    "name": "Homo sapiens",
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                }
            ],
            "protein_names": [
                {
                    "name": "Thioredoxin reductase 2, mitochondrial",
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                {
                    "name": "1.8.1.9",
                    "type": "synonym"
                },
                {
                    "name": "SelZ",
                    "type": "synonym"
                },
                {
                    "name": "Selenoprotein Z",
                    "type": "synonym"
                },
                {
                    "name": "TR-beta",
                    "type": "synonym"
                },
                {
                    "name": "Thioredoxin reductase TR3",
                    "type": "synonym"
                },
                {
                    "name": "selenoprotein Z",
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                },
                {
                    "name": "thioredoxin reductase 2, mitochondrial isoform 1 precursor",
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                },
                {
                    "name": "thioredoxin reductase 2, mitochondrial",
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                },
                {
                    "name": "thioredoxin reductase 3",
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                },
                {
                    "name": "thioredoxin reductase TR3",
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                },
                {
                    "name": "thioredoxin reductase beta",
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                }
            ],
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                {
                    "name": "TXNRD2",
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                {
                    "name": "GCCD5",
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                },
                {
                    "name": "KIAA1652",
                    "type": "synonym"
                },
                {
                    "name": "SELZ",
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                },
                {
                    "name": "TR-BETA",
                    "type": "synonym"
                },
                {
                    "name": "TR3",
                    "type": "synonym"
                },
                {
                    "name": "TRXR2",
                    "type": "synonym"
                },
                {
                    "name": "TR",
                    "type": "synonym"
                },
                {
                    "name": "TXNR2",
                    "type": "synonym"
                },
                {
                    "name": "TXNRD2",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060413",
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                }
            ]
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        {
            "uniprot_canonical_ac": "P54198-1",
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                {
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                }
            ],
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                {
                    "name": "Protein HIRA",
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                },
                {
                    "name": "DiGeorge critical region gene 1",
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                },
                {
                    "name": "HIR histone cell cycle regulation defective homolog A",
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                {
                    "name": "TUP1-like enhancer of split protein 1",
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                {
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                {
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                {
                    "name": "HIRA",
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                    "name": "HIR",
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                    "id": "0060413",
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            ],
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                {
                    "name": "Putative phosphatidylinositol 4-kinase alpha-like protein P2",
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                {
                    "name": "PI4KAP2",
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                    "id": "0060413",
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                }
            ],
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                {
                    "name": "Large ribosomal subunit protein mL40",
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                {
                    "name": "39S ribosomal protein L40, mitochondrial",
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                {
                    "name": "L40mt",
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                },
                {
                    "name": "MRP-L40",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear localization signal-containing protein deleted in velocardiofacial syndrome",
                    "type": "synonym"
                },
                {
                    "name": "Up-regulated in metastasis",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein mL40 isoform 1",
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                {
                    "name": "mitochondrial large ribosomal subunit protein mL40",
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                },
                {
                    "name": "nuclear localization signal-containing protein deleted in velocardiofacial syndrome",
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                },
                {
                    "name": "up-regulated in metastasis",
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                }
            ],
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                    "name": "MRPL40",
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                {
                    "name": "MRP-L22",
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                },
                {
                    "name": "MRP-L40",
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                },
                {
                    "name": "MRPL40",
                    "type": "synonym"
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                {
                    "name": "NLVCF",
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                },
                {
                    "name": "URIM",
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                {
                    "name": "mL40",
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                    "id": "0060413",
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            ]
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                    "name": "Homo sapiens",
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                }
            ],
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                    "name": "SNAP-29",
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                {
                    "name": "Soluble 29 kDa NSF attachment protein",
                    "type": "synonym"
                },
                {
                    "name": "Vesicle-membrane fusion protein SNAP-29",
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                },
                {
                    "name": "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome",
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                {
                    "name": "soluble 29 kDa NSF attachment protein",
                    "type": "synonym"
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                {
                    "name": "synaptosomal-associated protein 29",
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                {
                    "name": "synaptosomal-associated protein, 29kDa",
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                {
                    "name": "synaptosomal-associated protein, 29kD",
                    "type": "synonym"
                },
                {
                    "name": "synaptosome associated protein 29kDa",
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                {
                    "name": "vesicle-membrane fusion protein SNAP-29",
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            ],
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                    "name": "SNAP29",
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                    "name": "CEDNIK",
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                {
                    "name": "SNAP-29",
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                {
                    "name": "SNAP29",
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                    "id": "0060413",
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            ],
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                    "name": "Tricarboxylate transport protein, mitochondrial",
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                    "name": "CIC",
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                },
                {
                    "name": "CTP",
                    "type": "synonym"
                },
                {
                    "name": "Citrate transport protein",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial citrate carrier",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 1",
                    "type": "synonym"
                },
                {
                    "name": "Tricarboxylate carrier protein",
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                {
                    "name": "citrate isocitrate carrier",
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                {
                    "name": "citrate transport protein",
                    "type": "synonym"
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                {
                    "name": "citrate transporter), member 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial citrate carrier",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 20 (mitochondrial citrate transporter), member 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (mitochondrial carrier",
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                },
                {
                    "name": "tricarboxylate carrier protein",
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                },
                {
                    "name": "tricarboxylate transport protein, mitochondrial isoform a precursor",
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                },
                {
                    "name": "tricarboxylate transport protein, mitochondrial",
                    "type": "synonym"
                }
            ],
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                    "name": "SLC25A1",
                    "type": "recommended"
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                {
                    "name": "CIC",
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                {
                    "name": "CMS23",
                    "type": "synonym"
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                {
                    "name": "CTP",
                    "type": "synonym"
                },
                {
                    "name": "D2L2AD",
                    "type": "synonym"
                },
                {
                    "name": "SEA",
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                },
                {
                    "name": "SLC20A3",
                    "type": "synonym"
                },
                {
                    "name": "SLC25A1",
                    "type": "synonym"
                }
            ],
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                    "id": "0060413",
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            "uniprot_canonical_ac": "Q96RN5-1",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
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                }
            ],
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                {
                    "name": "Mediator of RNA polymerase II transcription subunit 15",
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                {
                    "name": "ARC105",
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                {
                    "name": "Activator-recruited cofactor 105 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "CTG repeat protein 7a",
                    "type": "synonym"
                },
                {
                    "name": "Mediator complex subunit 15",
                    "type": "synonym"
                },
                {
                    "name": "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "PC2 glutamine/Q-rich-associated protein",
                    "type": "synonym"
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                {
                    "name": "PC2-glutamine-rich-associated protein",
                    "type": "synonym"
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                {
                    "name": "Positive cofactor 2 glutamine/Q-rich-associated protein",
                    "type": "synonym"
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                {
                    "name": "TIG-1",
                    "type": "synonym"
                },
                {
                    "name": "TPA inducible gene-1",
                    "type": "synonym"
                },
                {
                    "name": "TPA inducible protein",
                    "type": "synonym"
                },
                {
                    "name": "TPA-inducible gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Trinucleotide repeat-containing gene 7 protein",
                    "type": "synonym"
                },
                {
                    "name": "activator-recruited cofactor 105 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "activator-recruited cofactor, 105-kD",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 15 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 15",
                    "type": "synonym"
                },
                {
                    "name": "positive cofactor 2, glutamine/Q-rich-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "trinucleotide repeat containing 7",
                    "type": "synonym"
                },
                {
                    "name": "trinucleotide repeat-containing gene 7 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MED15",
                    "type": "recommended"
                },
                {
                    "name": "ARC105",
                    "type": "synonym"
                },
                {
                    "name": "CAG7A",
                    "type": "synonym"
                },
                {
                    "name": "CTG7A",
                    "type": "synonym"
                },
                {
                    "name": "MED15",
                    "type": "synonym"
                },
                {
                    "name": "PCQAP",
                    "type": "synonym"
                },
                {
                    "name": "TIG-1",
                    "type": "synonym"
                },
                {
                    "name": "TIG1",
                    "type": "synonym"
                },
                {
                    "name": "TNRC7",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0060413",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060413"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43272-4",
            "uniprot_ac": "O43272",
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            "refseq_ac": "NP_001182155",
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    "association_flag": "1000",
    "record_id": "doid.0060413"
}