{
    "disease_id": "DOID:0111696",
    "recommended_name": {
        "id": "DOID:0111696",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111696",
        "name": "familial adult myoclonic epilepsy 6",
        "description": "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the TNRC6A gene on chromosome 16p12.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111696",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111696",
            "name": "BAFME6",
            "description": ""
        },
        {
            "id": "DOID:0111696",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111696",
            "name": "FAME6",
            "description": ""
        },
        {
            "id": "DOID:0111696",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111696",
            "name": "FCMTE6",
            "description": ""
        },
        {
            "id": "DOID:0111696",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111696",
            "name": "benign adult familial myoclonic epilepsy 6",
            "description": ""
        },
        {
            "id": "DOID:0111696",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111696",
            "name": "familial cortical myoclonic tremor and epilepsy 6",
            "description": ""
        },
        {
            "id": "MONDO:0054846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054846",
            "name": "epilepsy, familial adult myoclonic, 6",
            "description": ""
        },
        {
            "id": "MONDO:0054846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054846",
            "name": "FAME6",
            "description": ""
        },
        {
            "id": "MIM:618074",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618074",
            "name": "Epilepsy, familial adult myoclonic, 6",
            "description": "Epilepsy, familial adult myoclonic, 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111696"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111696",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111696",
            "categories": []
        },
        {
            "id": "MONDO:0054846",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054846",
            "categories": []
        },
        {
            "id": "MIM:618074",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618074",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3UHK8-1",
            "uniprot_ac": "Q3UHK8",
            "uniprot_id": "TNR6A_MOUSE",
            "refseq_ac": "NP_659174",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trinucleotide repeat-containing gene 6A protein",
                    "type": "recommended"
                },
                {
                    "name": "GW182 autoantigen",
                    "type": "synonym"
                },
                {
                    "name": "trinucleotide repeat-containing gene 6A protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnrc6a",
                    "type": "recommended"
                },
                {
                    "name": "2010321I05Rik",
                    "type": "synonym"
                },
                {
                    "name": "3110054G10Rik",
                    "type": "synonym"
                },
                {
                    "name": "CAGH26",
                    "type": "synonym"
                },
                {
                    "name": "D130023A07Rik",
                    "type": "synonym"
                },
                {
                    "name": "GW182",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1460",
                    "type": "synonym"
                },
                {
                    "name": "Tnrc6a",
                    "type": "synonym"
                },
                {
                    "name": "Tnrc6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UHK8-1",
            "evidence": [
                {
                    "id": "0111696",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111696"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NDV7-1",
            "uniprot_ac": "Q8NDV7",
            "uniprot_id": "TNR6A_HUMAN",
            "refseq_ac": "NP_001317449",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trinucleotide repeat-containing gene 6A protein",
                    "type": "recommended"
                },
                {
                    "name": "CAG repeat protein 26",
                    "type": "synonym"
                },
                {
                    "name": "CTD-2540M10.1",
                    "type": "synonym"
                },
                {
                    "name": "EDIE",
                    "type": "synonym"
                },
                {
                    "name": "EMSY interactor protein",
                    "type": "synonym"
                },
                {
                    "name": "GW182 autoantigen",
                    "type": "synonym"
                },
                {
                    "name": "Glycine-tryptophan protein of 182 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Protein GW1",
                    "type": "synonym"
                },
                {
                    "name": "glycine-tryptophan protein of 182 kDa",
                    "type": "synonym"
                },
                {
                    "name": "trinucleotide repeat containing 6A",
                    "type": "synonym"
                },
                {
                    "name": "trinucleotide repeat-containing gene 6A protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "trinucleotide repeat-containing gene 6A protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TNRC6A",
                    "type": "recommended"
                },
                {
                    "name": "CAGH26",
                    "type": "synonym"
                },
                {
                    "name": "FAME6",
                    "type": "synonym"
                },
                {
                    "name": "GW182",
                    "type": "synonym"
                },
                {
                    "name": "GW1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1460",
                    "type": "synonym"
                },
                {
                    "name": "TNRC6A",
                    "type": "synonym"
                },
                {
                    "name": "TNRC6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NDV7-1",
            "evidence": [
                {
                    "id": "618074",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618074"
                },
                {
                    "id": "0111696",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111696"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GAR2-1",
            "uniprot_ac": "A0A8I6GAR2",
            "uniprot_id": "A0A8I6GAR2_RAT",
            "refseq_ac": "NP_001382086",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trinucleotide repeat containing adaptor 6A",
                    "type": "synonym"
                },
                {
                    "name": "trinucleotide repeat containing 6a",
                    "type": "synonym"
                },
                {
                    "name": "trinucleotide repeat containing 6",
                    "type": "synonym"
                },
                {
                    "name": "trinucleotide repeat-containing gene 6A protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnrc6a",
                    "type": "recommended"
                },
                {
                    "name": "Tnrc6a",
                    "type": "synonym"
                },
                {
                    "name": "Tnrc6",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6GAR2-1",
            "evidence": [
                {
                    "id": "0111696",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111696"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8SY33-1",
            "uniprot_ac": "Q8SY33",
            "uniprot_id": "GAWKY_DROME",
            "refseq_ac": "NP_001014691",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Gawky",
                    "type": "recommended"
                },
                {
                    "name": "CG31992-PJ",
                    "type": "synonym"
                },
                {
                    "name": "gawki",
                    "type": "synonym"
                },
                {
                    "name": "gawky, isoform J",
                    "type": "synonym"
                },
                {
                    "name": "gawky",
                    "type": "synonym"
                },
                {
                    "name": "gw-PJ",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gw",
                    "type": "recommended"
                },
                {
                    "name": "CG11484",
                    "type": "synonym"
                },
                {
                    "name": "CG31992",
                    "type": "synonym"
                },
                {
                    "name": "CG9905",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31992",
                    "type": "synonym"
                },
                {
                    "name": "GQ182",
                    "type": "synonym"
                },
                {
                    "name": "GW182",
                    "type": "synonym"
                },
                {
                    "name": "GW",
                    "type": "synonym"
                },
                {
                    "name": "Gw182",
                    "type": "synonym"
                },
                {
                    "name": "Gw",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey205",
                    "type": "synonym"
                },
                {
                    "name": "dGW182",
                    "type": "synonym"
                },
                {
                    "name": "gw182",
                    "type": "synonym"
                },
                {
                    "name": "gw",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8SY33-1",
            "evidence": [
                {
                    "id": "0111696",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111696"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111696"
}