{
    "disease_id": "DOID:0050994",
    "recommended_name": {
        "id": "DOID:0050994",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050994",
        "name": "episodic ataxia type 6",
        "description": "An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0012982",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012982",
            "name": "episodic ataxia type 6",
            "description": "Episodic ataxia type 6 (EA6) is an exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia."
        },
        {
            "id": "MONDO:0012982",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012982",
            "name": "SLC1A3 hereditary episodic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0012982",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012982",
            "name": "episodic ataxia type 6",
            "description": ""
        },
        {
            "id": "MONDO:0012982",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012982",
            "name": "hereditary episodic ataxia caused by mutation in SLC1A3",
            "description": ""
        },
        {
            "id": "MONDO:0012982",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012982",
            "name": "EA6",
            "description": ""
        },
        {
            "id": "MONDO:0012982",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012982",
            "name": "episodic ataxia, type 6",
            "description": ""
        },
        {
            "id": "MIM:612656",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612656",
            "name": "Episodic ataxia 6",
            "description": "Episodic ataxia 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050994"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050994",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050994",
            "categories": []
        },
        {
            "id": "MONDO:0012982",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012982",
            "categories": []
        },
        {
            "id": "MIM:612656",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612656",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3ARW5-1",
            "uniprot_ac": "A0A8M3ARW5",
            "uniprot_id": "A0A8M3ARW5_DANRE",
            "refseq_ac": "XP_009299445",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Amino acid transporter",
                    "type": "recommended"
                },
                {
                    "name": "solute carrier family 1 member 3a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc1a3a",
                    "type": "recommended"
                },
                {
                    "name": "slc1a3a",
                    "type": "synonym"
                },
                {
                    "name": "slc1a3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb98e05",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd50b05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56661",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77768",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3ARW5-1",
            "evidence": [
                {
                    "id": "0050994",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050994"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ACD6B5C4-1",
            "uniprot_ac": "A0ACD6B5C4",
            "uniprot_id": "A0ACD6B5C4_DANRE",
            "refseq_ac": "XP_005156843",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Amino acid transporter",
                    "type": "recommended"
                },
                {
                    "name": "neutral amino acid transporter A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc1a4",
                    "type": "recommended"
                },
                {
                    "name": "si:zc101n13.5",
                    "type": "synonym"
                },
                {
                    "name": "slc1a4",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92817",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5C4-1",
            "evidence": [
                {
                    "id": "0050994",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050994"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P56564-1",
            "uniprot_ac": "P56564",
            "uniprot_id": "EAA1_MOUSE",
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            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Excitatory amino acid transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "GLAST-1",
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                },
                {
                    "name": "Glial high affinity glutamate transporter",
                    "type": "synonym"
                },
                {
                    "name": "GluT-1",
                    "type": "synonym"
                },
                {
                    "name": "High-affinity neuronal glutamate transporter",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-dependent glutamate/aspartate transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 1 member 3",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino acid transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "glial high affinity glutamate transporter",
                    "type": "synonym"
                },
                {
                    "name": "glutamate/aspartate transporter",
                    "type": "synonym"
                },
                {
                    "name": "high-affinity neuronal glutamate transporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent glutamate/aspartate transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 1, member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc1a3",
                    "type": "recommended"
                },
                {
                    "name": "B430115D02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Eaat1",
                    "type": "synonym"
                },
                {
                    "name": "GLAST-1",
                    "type": "synonym"
                },
                {
                    "name": "GLAST",
                    "type": "synonym"
                },
                {
                    "name": "GLU-T",
                    "type": "synonym"
                },
                {
                    "name": "GluT-1",
                    "type": "synonym"
                },
                {
                    "name": "Gmt1",
                    "type": "synonym"
                },
                {
                    "name": "MGluT1",
                    "type": "synonym"
                },
                {
                    "name": "Slc1a3",
                    "type": "synonym"
                }
            ],
            "record_id": "P56564-1",
            "evidence": [
                {
                    "id": "0050994",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050994"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51912-1",
            "uniprot_ac": "P51912",
            "uniprot_id": "AAAT_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neutral amino acid transporter B(0)",
                    "type": "recommended"
                },
                {
                    "name": "ASC-like Na(+)-dependent neutral amino acid transporter ASCT2",
                    "type": "synonym"
                },
                {
                    "name": "ATB(0)",
                    "type": "synonym"
                },
                {
                    "name": "Insulin-activated amino acid transporter",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-dependent neutral amino acid transporter type 2",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 1 member 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc1a5",
                    "type": "recommended"
                },
                {
                    "name": "Aaat",
                    "type": "synonym"
                },
                {
                    "name": "Asct2",
                    "type": "synonym"
                },
                {
                    "name": "Slc1a7",
                    "type": "synonym"
                }
            ],
            "record_id": "P51912-1",
            "evidence": [
                {
                    "id": "0050994",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050994"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35544-1",
            "uniprot_ac": "O35544",
            "uniprot_id": "EAA4_MOUSE",
            "refseq_ac": "NP_033226",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Excitatory amino acid transporter 4",
                    "type": "recommended"
                },
                {
                    "name": "High-affinity neuronal glutamate transporter",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-dependent glutamate/aspartate transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 1 member 6",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino acid transporter 4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino acid transporter 4",
                    "type": "synonym"
                },
                {
                    "name": "high-affinity neuronal glutamate transporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent glutamate/aspartate transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 1, member 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc1a6",
                    "type": "recommended"
                },
                {
                    "name": "EAAT4",
                    "type": "synonym"
                },
                {
                    "name": "Eaat4",
                    "type": "synonym"
                },
                {
                    "name": "Slc1a6",
                    "type": "synonym"
                }
            ],
            "record_id": "O35544-1",
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                {
                    "id": "0050994",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050994"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51906-1",
            "uniprot_ac": "P51906",
            "uniprot_id": "EAA3_MOUSE",
            "refseq_ac": "NP_033225",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
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                    "name": "Excitatory amino acid transporter 3",
                    "type": "recommended"
                },
                {
                    "name": "Excitatory amino-acid carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-dependent glutamate/aspartate transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 1 member 1",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino acid carrier 2",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino acid transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino-acid carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "glutamate transporter mEAAC2",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent glutamate/aspartate transporter 3",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Slc1a1",
                    "type": "recommended"
                },
                {
                    "name": "D130048G10Rik",
                    "type": "synonym"
                },
                {
                    "name": "EAAC1",
                    "type": "synonym"
                },
                {
                    "name": "EAAC2",
                    "type": "synonym"
                },
                {
                    "name": "EAAT3",
                    "type": "synonym"
                },
                {
                    "name": "Eaac1",
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                },
                {
                    "name": "Eaat3",
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                {
                    "name": "MEAAC1",
                    "type": "synonym"
                },
                {
                    "name": "Slc1a1",
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                }
            ],
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                {
                    "id": "0050994",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050994"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35874-1",
            "uniprot_ac": "O35874",
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            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neutral amino acid transporter A",
                    "type": "recommended"
                },
                {
                    "name": "ASCT-1",
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                },
                {
                    "name": "Alanine/serine/cysteine/threonine transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 1 member 4",
                    "type": "synonym"
                },
                {
                    "name": "alanine/serine/cysteine/threonine transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "neutral amino acid transporter A isoform 1",
                    "type": "synonym"
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                {
                    "name": "neutral amino acid transporter A",
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                {
                    "name": "solute carrier family 1 member 4",
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                }
            ],
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                    "name": "Slc1a4",
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                    "name": "ASCT-1",
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                },
                {
                    "name": "ASCT1",
                    "type": "synonym"
                },
                {
                    "name": "Asct1",
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                },
                {
                    "name": "SATT",
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                },
                {
                    "name": "Satt",
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                },
                {
                    "name": "Slc1a4",
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            ],
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                {
                    "id": "0050994",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050994"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8JZR4-1",
            "uniprot_ac": "Q8JZR4",
            "uniprot_id": "EAA5_MOUSE",
            "refseq_ac": "NP_666367",
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            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
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                    "name": "Excitatory amino acid transporter 5",
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                },
                {
                    "name": "Solute carrier family 1 member 7",
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                },
                {
                    "name": "excitatory amino acid transporter 5",
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                {
                    "name": "solute carrier family 1 member 7",
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                }
            ],
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                {
                    "name": "Slc1a7",
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                    "name": "A930031E15Rik",
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                },
                {
                    "name": "Eaat5",
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                },
                {
                    "name": "Slc1a7",
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            ],
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                    "id": "0050994",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43003-1",
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            "refseq_ac": "NP_001276869",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Excitatory amino acid transporter 1",
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                {
                    "name": "GLAST-1",
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                {
                    "name": "Sodium-dependent glutamate/aspartate transporter 1",
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                },
                {
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                },
                {
                    "name": "excitatory amino acid transporter 1 isoform 5",
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                },
                {
                    "name": "excitatory amino acid transporter 1",
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                },
                {
                    "name": "sodium-dependent glutamate/aspartate transporter 1",
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                },
                {
                    "name": "solute carrier family 1 (glial high affinity glutamate transporter), member 3",
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                }
            ],
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                    "name": "SLC1A3",
                    "type": "recommended"
                },
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                    "name": "EA6",
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                },
                {
                    "name": "EAAT1",
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                },
                {
                    "name": "GLAST1",
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                },
                {
                    "name": "GLAST",
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                },
                {
                    "name": "SLC1A3",
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                }
            ],
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                    "id": "612656",
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                },
                {
                    "id": "0050994",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050994"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P24942-1",
            "uniprot_ac": "P24942",
            "uniprot_id": "EAA1_RAT",
            "refseq_ac": "NP_001276870",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Excitatory amino acid transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "GLAST-1",
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                },
                {
                    "name": "GLAST",
                    "type": "synonym"
                },
                {
                    "name": "Glial glutamate transporter",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-dependent glutamate/aspartate transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 1 member 3",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino acid transporter 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino acid transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "glial glutamate transporter",
                    "type": "synonym"
                },
                {
                    "name": "glutamate transporter",
                    "type": "synonym"
                },
                {
                    "name": "glutamate/aspartate transporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent glutamate/aspartate transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 1 (glial high affinity glutamate transporter), member 3",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Slc1a3",
                    "type": "recommended"
                },
                {
                    "name": "EAAT1",
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                },
                {
                    "name": "Eaat1",
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                },
                {
                    "name": "GLAST-1",
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                },
                {
                    "name": "GLAST",
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                },
                {
                    "name": "GluT-1",
                    "type": "synonym"
                },
                {
                    "name": "Slc1a3",
                    "type": "synonym"
                }
            ],
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    "record_id": "doid.0050994"
}