{
    "disease_id": "DOID:0111578",
    "recommended_name": {
        "id": "DOID:0111578",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111578",
        "name": "Gillespie syndrome",
        "description": "A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ITPR1 gene on chromosome 3p26.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111578",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111578",
            "name": "aniridia-cerebellar ataxia-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111578",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111578",
            "name": "GLSP",
            "description": ""
        },
        {
            "id": "DOID:0111578",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111578",
            "name": "aniridia, cerebellar ataxia and mental deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008795",
            "name": "aniridia-cerebellar ataxia-intellectual disability syndrome",
            "description": "Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability."
        },
        {
            "id": "MONDO:0008795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008795",
            "name": "Aniridia Cerebellar Ataxia Mental Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008795",
            "name": "GILLESPIE syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008795",
            "name": "GLSP",
            "description": ""
        },
        {
            "id": "MONDO:0008795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008795",
            "name": "Gillespie syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008795",
            "name": "aniridia, cerebellar ataxia and mental deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008795",
            "name": "aniridia, cerebellar ataxia, and intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0008795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008795",
            "name": "aniridia, cerebellar ataxia, and mental retardation",
            "description": ""
        },
        {
            "id": "MIM:206700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/206700",
            "name": "Gillespie syndrome",
            "description": "Gillespie syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111578"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111578",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111578",
            "categories": []
        },
        {
            "id": "MONDO:0008795",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008795",
            "categories": []
        },
        {
            "id": "MIM:206700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/206700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BDG0-1",
            "uniprot_ac": "A0A8M2BDG0",
            "uniprot_id": "A0A8M2BDG0_DANRE",
            "refseq_ac": "XP_005166152",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inositol 1,4,5-trisphosphate receptor",
                    "type": "recommended"
                },
                {
                    "name": "inositol 1,4,5-trisphosphate-gated calcium channel ITPR1 isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "itpr1a",
                    "type": "recommended"
                },
                {
                    "name": "itpr1a",
                    "type": "synonym"
                }
            ],
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111578"
                }
            ]
        },
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            "uniprot_ac": "A0AB32TXG4",
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            "refseq_ac": "XP_068080493",
            "glycoprotein": "no",
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                    "name": "Danio rerio",
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                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Inositol 1,4,5-trisphosphate receptor",
                    "type": "recommended"
                },
                {
                    "name": "inositol 1,4,5-trisphosphate-gated calcium channel ITPR1 isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "itpr1b",
                    "type": "recommended"
                },
                {
                    "name": "itpr1b",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111578",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11881-1",
            "uniprot_ac": "P11881",
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            "refseq_ac": "NP_034715",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Inositol 1,4,5-trisphosphate-gated calcium channel ITPR1",
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                },
                {
                    "name": "IP3 receptor isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "IP3 receptor",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "Inositol 1,4,5 trisphosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "Inositol 1,4,5-trisphosphate receptor type 1",
                    "type": "synonym"
                },
                {
                    "name": "Inositol 1,4,5-trisphosphate-binding protein P400",
                    "type": "synonym"
                },
                {
                    "name": "InsP3R1",
                    "type": "synonym"
                },
                {
                    "name": "InsP>3<R type I",
                    "type": "synonym"
                },
                {
                    "name": "Protein PCD-6",
                    "type": "synonym"
                },
                {
                    "name": "Purkinje cell protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Type 1 InsP3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Type 1 inositol 1,4,5-trisphosphate receptor",
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                },
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                    "name": "inositol 1,4,5 trisphosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-trisphosphate receptor type 1",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-trisphosphate-binding protein P400",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-trisphosphate-gated calcium channel ITPR1",
                    "type": "synonym"
                },
                {
                    "name": "opisthotonus",
                    "type": "synonym"
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                {
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                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "type 1 inositol 1,4,5-trisphosphate receptor",
                    "type": "synonym"
                }
            ],
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                    "name": "Itpr1",
                    "type": "recommended"
                },
                {
                    "name": "D6Pas2",
                    "type": "synonym"
                },
                {
                    "name": "Gm10429",
                    "type": "synonym"
                },
                {
                    "name": "IP3R 1",
                    "type": "synonym"
                },
                {
                    "name": "IP3R1",
                    "type": "synonym"
                },
                {
                    "name": "InsP3R",
                    "type": "synonym"
                },
                {
                    "name": "Insp3r",
                    "type": "synonym"
                },
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                    "name": "Ip3r",
                    "type": "synonym"
                },
                {
                    "name": "Itpr-1",
                    "type": "synonym"
                },
                {
                    "name": "Itpr1",
                    "type": "synonym"
                },
                {
                    "name": "P400",
                    "type": "synonym"
                },
                {
                    "name": "Pcd6",
                    "type": "synonym"
                },
                {
                    "name": "Pcp-1",
                    "type": "synonym"
                },
                {
                    "name": "Pcp1",
                    "type": "synonym"
                },
                {
                    "name": "insP3R1",
                    "type": "synonym"
                },
                {
                    "name": "opt",
                    "type": "synonym"
                },
                {
                    "name": "wblo",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111578",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111578"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14643-1",
            "uniprot_ac": "Q14643",
            "uniprot_id": "ITPR1_HUMAN",
            "refseq_ac": "NP_001093422",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Inositol 1,4,5-trisphosphate-gated calcium channel ITPR1",
                    "type": "recommended"
                },
                {
                    "name": "IP3 receptor isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "IP3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "IP3R 1",
                    "type": "synonym"
                },
                {
                    "name": "Inositol 1,4,5 trisphosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "Inositol 1,4,5-trisphosphate receptor type 1",
                    "type": "synonym"
                },
                {
                    "name": "InsP3R1",
                    "type": "synonym"
                },
                {
                    "name": "Type 1 InsP3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Type 1 inositol 1,4,5-trisphosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5 trisphosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-triphosphate receptor, type 1",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-trisphosphate-gated calcium channel ITPR1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-trisphosphate-gated calcium channel ITPR1",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 94",
                    "type": "synonym"
                },
                {
                    "name": "type 1 InsP3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "type 1 inositol 1,4,5-trisphosphate receptor",
                    "type": "synonym"
                }
            ],
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                    "name": "ITPR1",
                    "type": "recommended"
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                {
                    "name": "ACV",
                    "type": "synonym"
                },
                {
                    "name": "CLA4",
                    "type": "synonym"
                },
                {
                    "name": "INSP3R1",
                    "type": "synonym"
                },
                {
                    "name": "IP3R1",
                    "type": "synonym"
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                {
                    "name": "IP3R",
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                },
                {
                    "name": "ITPR1",
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                {
                    "name": "PPP1R94",
                    "type": "synonym"
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                {
                    "name": "SCA15",
                    "type": "synonym"
                },
                {
                    "name": "SCA16",
                    "type": "synonym"
                },
                {
                    "name": "SCA29",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14643-1",
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                {
                    "id": "206700",
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                {
                    "id": "0111578",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111578"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29994-1",
            "uniprot_ac": "P29994",
            "uniprot_id": "ITPR1_RAT",
            "refseq_ac": "NP_001257526",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inositol 1,4,5-trisphosphate-gated calcium channel ITPR1",
                    "type": "recommended"
                },
                {
                    "name": "IP-3-R",
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                },
                {
                    "name": "IP3 receptor isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "IP3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "IP3R 1",
                    "type": "synonym"
                },
                {
                    "name": "Inositol 1,4,5-trisphosphate receptor type 1",
                    "type": "synonym"
                },
                {
                    "name": "Inositol 1,4,5-trisphosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "InsP3R1",
                    "type": "synonym"
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                {
                    "name": "Type 1 InsP3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Type 1 inositol 1,4,5-trisphosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-triphosphate receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-triphosphate receptor, type 1",
                    "type": "synonym"
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                {
                    "name": "inositol 1,4,5-trisphosphate-gated calcium channel ITPR1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-trisphosphate-gated calcium channel ITPR1",
                    "type": "synonym"
                },
                {
                    "name": "type 1 InsP3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "type 1 inositol 1,4,5-trisphosphate receptor",
                    "type": "synonym"
                }
            ],
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                    "name": "Itpr1",
                    "type": "recommended"
                },
                {
                    "name": "I145TR",
                    "type": "synonym"
                },
                {
                    "name": "IP3R1",
                    "type": "synonym"
                },
                {
                    "name": "InsP3R1",
                    "type": "synonym"
                },
                {
                    "name": "InsP3R",
                    "type": "synonym"
                },
                {
                    "name": "Insp3r",
                    "type": "synonym"
                },
                {
                    "name": "Itpr1",
                    "type": "synonym"
                },
                {
                    "name": "P400",
                    "type": "synonym"
                }
            ],
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                    "id": "0111578",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111578"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29993-1",
            "uniprot_ac": "P29993",
            "uniprot_id": "ITPR_DROME",
            "refseq_ac": "NP_001287180",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inositol 1,4,5-trisphosphate receptor",
                    "type": "recommended"
                },
                {
                    "name": "1, 4, 5-inositol trisphosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "CG1063-PC",
                    "type": "synonym"
                },
                {
                    "name": "IP3R",
                    "type": "synonym"
                },
                {
                    "name": "IP[[3]] receptor",
                    "type": "synonym"
                },
                {
                    "name": "Inositol(1,4,5)-triphosphate receptor 42B",
                    "type": "synonym"
                },
                {
                    "name": "Ins(1,4,5)P[[3]] receptor",
                    "type": "synonym"
                },
                {
                    "name": "InsP3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "InsP3R",
                    "type": "synonym"
                },
                {
                    "name": "InsP[[3]] receptor",
                    "type": "synonym"
                },
                {
                    "name": "Itpr-PC",
                    "type": "synonym"
                },
                {
                    "name": "dm_IP3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5,-tris-phosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5,-trisphosphate receptor, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-triphosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-trisphosphate (InsP3) receptor",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-trisphosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "inositol triphosphate receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "inositol trisphosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "inositol-1,3,5,-trisphosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "inositol-1,4,5-trisphosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "inositol-triphosphate receptor",
                    "type": "synonym"
                },
                {
                    "name": "ip3-receptor",
                    "type": "synonym"
                },
                {
                    "name": "type 1 InsP{3} receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Itpr",
                    "type": "recommended"
                },
                {
                    "name": "CG1063",
                    "type": "synonym"
                },
                {
                    "name": "DIP",
                    "type": "synonym"
                },
                {
                    "name": "DmInsP[[3R]]",
                    "type": "synonym"
                },
                {
                    "name": "DmInsP[[3]]R",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1063",
                    "type": "synonym"
                },
                {
                    "name": "IP3R",
                    "type": "synonym"
                },
                {
                    "name": "IP[[3]] receptor",
                    "type": "synonym"
                },
                {
                    "name": "IP[[3]]R",
                    "type": "synonym"
                },
                {
                    "name": "IP",
                    "type": "synonym"
                },
                {
                    "name": "ITP-r83A",
                    "type": "synonym"
                },
                {
                    "name": "ITPR1",
                    "type": "synonym"
                },
                {
                    "name": "ITPR",
                    "type": "synonym"
                },
                {
                    "name": "Ins3PR",
                    "type": "synonym"
                },
                {
                    "name": "InsP(3)",
                    "type": "synonym"
                },
                {
                    "name": "InsP3R",
                    "type": "synonym"
                },
                {
                    "name": "InsP3",
                    "type": "synonym"
                },
                {
                    "name": "InsP[[3]]R",
                    "type": "synonym"
                },
                {
                    "name": "InsP[[3]]",
                    "type": "synonym"
                },
                {
                    "name": "Insp3R",
                    "type": "synonym"
                },
                {
                    "name": "Ip3R",
                    "type": "synonym"
                },
                {
                    "name": "Ip3r",
                    "type": "synonym"
                },
                {
                    "name": "Itp-R83A",
                    "type": "synonym"
                },
                {
                    "name": "Itp-R83a",
                    "type": "synonym"
                },
                {
                    "name": "Itp-r-83A",
                    "type": "synonym"
                },
                {
                    "name": "Itp-r42B",
                    "type": "synonym"
                },
                {
                    "name": "Itp-r83A",
                    "type": "synonym"
                },
                {
                    "name": "Itp-r[1]",
                    "type": "synonym"
                },
                {
                    "name": "Itp-r",
                    "type": "synonym"
                },
                {
                    "name": "ItpR",
                    "type": "synonym"
                },
                {
                    "name": "Itpr",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO02059370.49",
                    "type": "synonym"
                },
                {
                    "name": "dIP3R",
                    "type": "synonym"
                },
                {
                    "name": "dIP[[3]]R",
                    "type": "synonym"
                },
                {
                    "name": "dip",
                    "type": "synonym"
                },
                {
                    "name": "ip3r",
                    "type": "synonym"
                },
                {
                    "name": "itpr-83",
                    "type": "synonym"
                },
                {
                    "name": "itpr",
                    "type": "synonym"
                },
                {
                    "name": "l(3)05616",
                    "type": "synonym"
                },
                {
                    "name": "l(3)itpr",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j5B4",
                    "type": "synonym"
                }
            ],
            "record_id": "P29993-1",
            "evidence": [
                {
                    "id": "0111578",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111578"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q09013-9",
            "uniprot_ac": "Q09013",
            "uniprot_id": "DMPK_HUMAN",
            "refseq_ac": "NP_001075029",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myotonin-protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "DM protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "DM-kinase",
                    "type": "synonym"
                },
                {
                    "name": "DM1 protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "DMK",
                    "type": "synonym"
                },
                {
                    "name": "DMPK",
                    "type": "synonym"
                },
                {
                    "name": "MT-PK",
                    "type": "synonym"
                },
                {
                    "name": "Myotonic dystrophy protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "dystrophia myotonica protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "myotonic dystrophy associated protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "myotonin protein kinase A",
                    "type": "synonym"
                },
                {
                    "name": "myotonin-protein kinase isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "thymopoietin homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DMPK",
                    "type": "recommended"
                },
                {
                    "name": "DM1PK",
                    "type": "synonym"
                },
                {
                    "name": "DM1",
                    "type": "synonym"
                },
                {
                    "name": "DMK",
                    "type": "synonym"
                },
                {
                    "name": "DMPK",
                    "type": "synonym"
                },
                {
                    "name": "DM",
                    "type": "synonym"
                },
                {
                    "name": "MDPK",
                    "type": "synonym"
                },
                {
                    "name": "MT-PK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q09013-9",
            "evidence": [
                {
                    "id": "0111578",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111578"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111578"
}